Myeloid sarcoma with RBM15::MRTFA (MKL1) mimicking vascular neoplasm.
Acute megakaryoblastic leukemia
Children
Malignant mesenchymal tumor
Myeloid sarcoma
RBM15::MRTFA(MKL1) fusion
Vascular neoplasm
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
20 Feb 2024
20 Feb 2024
Historique:
received:
18
12
2023
accepted:
09
02
2024
revised:
24
01
2024
medline:
20
2
2024
pubmed:
20
2
2024
entrez:
19
2
2024
Statut:
aheadofprint
Résumé
Extramedullary involvement of acute myeloid leukemia (AML), aka myeloid sarcoma, is a rare phenomenon in acute megakaryoblastic leukemia with RBM15:: MRTFA(MKL1) fusion, which might mimic non-hematologic malignancies. A 7-month-old infant presented with leukocytosis, hepatosplenomegaly, multiple lymphadenopathies, and a solid mass in the right thigh. Initially, the patient was diagnosed with a malignant vascular tumor regarding the expression of vascular markers from the biopsy of the right thigh lesion that was performed after the inconclusive bone marrow biopsy. The second bone marrow biopsy, which was performed due to the partial response to sarcoma treatment, showed hypercellular bone marrow with CD34 and CD61-positive spindle cell infiltration and > 20% basophilic blasts with cytoplasmic blebs. RNA sequencing of soft tissue biopsy revealed the presence of RBM15::MRTFA(MKL1) fusion. Based on these findings, myeloid sarcoma/AML with RBM15::MRTFA(MKL1) fusion diagnosis was made. AML with RBM15::MRTFA(MKL1) fusion can initially present as extramedullary lesions and might cause misdiagnosis of non-hematologic malignancies.
Identifiants
pubmed: 38374236
doi: 10.1007/s00428-024-03766-z
pii: 10.1007/s00428-024-03766-z
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s).
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